New finding important to heart health, also changed faculty member's entire research path

June 1, 2012

Medical scientist Howard Young's research has taken a dramatic, unexpected turn in the last few months, thanks to a serendipitous chain of events that could lead to a genetic test that can predict heart failure in certain people before it happens.

It started when members of his team, Delaine Ceholski and Cathy Trieber, discovered a new mutation in a protein called phospholamban, which they predicted would cause the heart to be less responsive to changes in the body and eventually lead to . One month after submitting their paper to the for review, their work was validated when – in completely separate research – the mutation was found in two in Brazil.

"We predicted it exactly," said Young, an associate professor in the Faculty of Medicine & Dentistry's Department of Biochemistry and researcher with the National Institute of Nanotechnology. "It's interesting, because as basic researchers you feel like you have to constantly defend your research and how relevant test-tube work is to patients... and then one day, to our surprise, we were right.

"I expected to be right, but not in the time frame that occurred. It happened quickly."

Shortly after that, Young was asked to speak at the Centennial Lectures, a speakers series offered by the faculty as a lead-up to the medical school's centennial year in 2013 to spotlight the translational work of its researchers.

Young was paired with cardiologist and researcher Justin Ezekowitz of the Department of Medicine. Each became interested in the work of the other, and now the two are pairing up to screen patients' blood samples for mutations in the phospholamban protein.

"If someone had asked me last September if we'd ever get into sequencing patients' genes and trying to discover mutants, I would say 'no, you're wrong,' " said Young. "But now we're very interested in starting large sequencing

studies to try and find more mutations." Through his research, Young thinks he has established good prediction models for heart disease. If his research group finds a mutation in phospholamban through blood screening, Young believes he can predict the severity of the mutation and whether or not it will be associated with disease.

"It will be truly personalized medicine," said Young. "If we know they [patients] have a mutation before disease, monitoring and early treatment could improve and extend the quality of life for these patients."

Young and researchers in his lab will look at blood samples from about 750 patients at the Mazankowski Alberta Heart Institute. Young expects to find at least two or three people with a mutation in phospholamban.

They'll also look for other mutations that have not been previously discovered. "There's a related protein to phospholamban in the skeletal muscle and the atria of the , so we're branching out and going to see if we can identify new mutations, because no have been identified in that ," he said.

Explore further: First genetic mutation linked to heart failure in pregnant women

Related Stories

Genetic mutation implicated in 'broken' heart

February 15, 2012

For decades, researchers have sought a genetic explanation for idiopathic dilated cardiomyopathy (DCM), a weakening and enlargement of the heart that puts an estimated 1.6 million Americans at risk of heart failure each year. ...

Recommended for you

Flu study, on hold, yields new vaccine technology

September 2, 2015

Vaccines to protect against an avian influenza pandemic as well as seasonal flu may be mass produced more quickly and efficiently using technology described today by researchers at the University of Wisconsin-Madison in the ...

We've all got a blind spot, but it can be shrunk

August 31, 2015

You've probably never noticed, but the human eye includes an unavoidable blind spot. That's because the optic nerve that sends visual signals to the brain must pass through the retina, which creates a hole in that light-sensitive ...

Biologists identify mechanisms of embryonic wound repair

August 31, 2015

It's like something out of a science-fiction movie - time-lapse photography showing how wounds in embryos of fruit flies heal themselves. The images are not only real; they shed light on ways to improve wound recovery in ...

New 'Tissue Velcro' could help repair damaged hearts

August 28, 2015

Engineers at the University of Toronto just made assembling functional heart tissue as easy as fastening your shoes. The team has created a biocompatible scaffold that allows sheets of beating heart cells to snap together ...

Fertilization discovery: Do sperm wield tiny harpoons?

August 26, 2015

Could the sperm harpoon the egg to facilitate fertilization? That's the intriguing possibility raised by the University of Virginia School of Medicine's discovery that a protein within the head of the sperm forms spiky filaments, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.